Phenotypes associated with this allele

• Allele Symbol: Myo10^m1J
• Allele Name: mutation 1 Jackson
• Allele ID: MGI:5578506
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myo10^m1J/Myo10^m1J	B6.Cg-Myo10^m1J/GrsrJ	MGI:5604096
hm2	Myo10^m1J/Myo10^m1J	involves: C57BL/6J	MGI:6116650

Genotype
MGI:5604096

hm1

• Allelic Composition: Myo10^m1J/Myo10^m1J
• Genetic Background: B6.Cg-Myo10^m1J/GrsrJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal eye morphology ( J:214794 )

iris coloboma ( J:214794 )

cornea opacity ( J:214794 )

persistence of hyaloid vascular system ( J:214794 )

integument

white spotting ( J:214794 )

• homozygotes have a white belly spot and, more rarely, a white spot on the back of an otherwise black coat

belly spot ( J:214794 )

abnormal tail pigmentation ( J:214794 )

decreased tail pigmentation ( J:214794 )

• homozygotes often have irregular regions of diminished pigment on the tail

pigmentation

white spotting ( J:214794 )

• homozygotes have a white belly spot and, more rarely, a white spot on the back of an otherwise black coat

belly spot ( J:214794 )

abnormal tail pigmentation ( J:214794 )

decreased tail pigmentation ( J:214794 )

• homozygotes often have irregular regions of diminished pigment on the tail

limbs/digits/tail

abnormal tail pigmentation ( J:214794 )

decreased tail pigmentation ( J:214794 )

• homozygotes often have irregular regions of diminished pigment on the tail

syndactyly ( J:214794 )

• fused digits on either or both of the front feet, but not the hind feet

fused phalanges ( J:214794 )

growth/size/body

decreased body size ( J:214794 )

• slightly smaller than normal

skeleton

fused phalanges ( J:214794 )

Genotype
MGI:6116650

hm2

• Allelic Composition: Myo10^m1J/Myo10^m1J
• Genetic Background: involves: C57BL/6J

mortality/aging

decreased survivor rate ( J:256438 )

• less than half of homozygotes obtained from heterozygous matings survived birth; these were able to feed, develop into adults, and mate successfully

lethality during fetal growth through weaning, incomplete penetrance ( J:256438 )

• although homozygotes obtained from heterozygous matings were present at normal Mendelian ratios at E12.5-E17.5, homozygous mutant pups were obtained at less than half the expected number, with 14 of 174 (8%) being mutant pups versus 48 of 174 (28%) wild-type pups; fetuses undergoing resorption were also observed

growth/size/body

decreased embryo size ( J:256438 )

• 9% of embryos exhibited gross developmental defects such as very small size

• embryos were slightly smaller than controls even in the absence of exencephaly or other major defects

decreased body weight ( J:256438 )

• at P21 and P28, the average body weight was slightly smaller than that of wild-type and heterozygous controls

nervous system

craniorachischisis ( J:256438 )

• 18% of embryos exhibited craniorachischisis

abnormal brain morphology ( J:256438 )

• exencephalic embryos showed absence of a cranium and gross defects in brain morphology

exencephaly ( J:256438 )

• 73% of embryos obtained from heterozygous matings exhibited exencephaly

• 7 of the eight E15.5 embryos obtained from a homozygous mating had exencephaly, including one that also had omphalocele

craniofacial

acrania ( J:256438 )

• exencephalic embryos showed absence of a cranium and gross defects in brain morphology

vision/eye

abnormal lens development ( J:256438 )

• at E16.5, eyes exhibited defects in lens formation, often associated with persistent hyaloid vasculature

failure of eyelid fusion ( J:256438 )

• at E16.5, some eyes failed to undergo eyelid closure; failure of or delayed eyelid closure was observed both in exencephalic and non-exencephalic embryos

persistence of hyaloid vascular system ( J:256438 )

• all 5 of the homozygotes whose eyes were dissected at 6 weeks showed persistent hyaloid vasculature that was pigmented and present bilaterally

microphthalmia ( J:256438 )

• 3 of 14 pups showed severe microphthalmia

anophthalmia ( J:256438 )

• 1 of 14 pups showed anophthalmia

cardiovascular system

hemorrhage ( J:256438 )

• 64% of homozygous embryos from heterozygous matings had blood in the amniotic fluid

• all eight E15.5 embryos obtained from a homozygous mating exhibited blood in the amniotic sac

pigmentation

white spotting ( J:256438 )

• 14 of 14 pups had a white belly spot and 4 of 14 also had a white spot on the back

belly spot ( J:256438 )

• all (14 of 14) pups showed a white belly spot

limbs/digits/tail

syndactyly ( J:256438 )

• 6 of 14 pups showed webbed digits on one or both forelimbs

embryo

decreased embryo size ( J:256438 )

• 9% of embryos exhibited gross developmental defects such as very small size

• embryos were slightly smaller than controls even in the absence of exencephaly or other major defects

craniorachischisis ( J:256438 )

• 18% of embryos exhibited craniorachischisis

integument

white spotting ( J:256438 )

• 14 of 14 pups had a white belly spot and 4 of 14 also had a white spot on the back

belly spot ( J:256438 )

• all (14 of 14) pups showed a white belly spot

skeleton

acrania ( J:256438 )

• exencephalic embryos showed absence of a cranium and gross defects in brain morphology

liver/biliary system

absent liver ( J:256438 )

• 1 of the eight E15.5 embryos obtained from a homozygous mating was very small and appeared to lack a liver

behavior/neurological

behavior/neurological phenotype ( J:256438 )

N • young adult homozygotes did not display obvious circling or shaking and showed a normal Preyer reflex